Hydrocephalus and spastic paraplegia result from a donor splice site mutation (2872 + 1G to A) in the L1CAM gene in a Venezuelan pedigree.
Claes
S
S
Center for Human Genetics, University of Leuven, Belgium.
Aguirre
T
T
Simosa
V
V
Bustos
T
T
Lander
R
R
Piras
M
M
Legius
E
E
Cassiman
J J
JJ
Raeymaekers
P
P
D017398:Alternative Splicing / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D005192:Family Health; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D039841:Leukocyte L1 Antigen Complex; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D019006:Neural Cell Adhesion Molecules / Q000235:genetics*; D010264:Paraplegia / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D017384:Sequence Deletion; D014687:Venezuela
D018076:DNA, Complementary; D039841:Leukocyte L1 Antigen Complex; D008562:Membrane Glycoproteins; D019006:Neural Cell Adhesion Molecules